(Q34153403)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21131976%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21131976%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

11

1 reference

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17 January 2020

author name string

Johannes G Dauwerse

1

1 reference

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17 January 2020

Jill Dixon

2

1 reference

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17 January 2020

Saskia Seland

3

1 reference

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17 January 2020

Claudia A L Ruivenkamp

4

1 reference

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17 January 2020

Arie van Haeringen

5

1 reference

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17 January 2020

Lies H Hoefsloot

6

1 reference

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17 January 2020

Dorien J M Peters

7

1 reference

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17 January 2020

Agnes Clement-de Boers

8

1 reference

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17 January 2020

Cornelia Daumer-Haas

9

1 reference

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17 January 2020

Robert Maiwald

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21131976%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Bronwyn Kerr

12

1 reference

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17 January 2020

Ana M Cobo

13

1 reference

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17 January 2020

Joaquín F Toral

14

1 reference

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17 January 2020

A Jeannette M Hoogeboom

15

1 reference

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17 January 2020

Dietmar R Lohmann

16

1 reference

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17 January 2020

Ute Hehr

17

1 reference

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17 January 2020

Michael J Dixon

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21131976%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Martijn H Breuning

19

1 reference

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17 January 2020

Dagmar Wieczorek

20

1 reference

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17 January 2020

language of work or name

English

0 references

publication date

5 December 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21131976%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21131976%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

volume

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21131976%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

page(s)

20-22

1 reference

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17 January 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21131976%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ng.724

17 January 2020

exact match

0 references

cites work

Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group

1 reference

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

21 January 2018

1 reference

Reconstitution of yeast and Arabidopsis RNA polymerase alpha-like subunit heterodimers.

21 January 2018

1 reference

Mouse RNA polymerase I 16-kDa subunit able to associate with 40-kDa subunit is a homolog of yeast AC19 subunit of RNA polymerases I and III.

21 January 2018

1 reference

RPC40, a unique gene for a subunit shared between yeast RNA polymerases A and C.

21 January 2018

1 reference

Mandibulofacial dysostosis in Hutterite sibs: a possible recessive trait.

21 January 2018

1 reference

The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor

21 January 2018

1 reference

Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities

21 January 2018

1 reference

Treacle recruits RNA polymerase I complex to the nucleolus that is independent of UBF.

21 January 2018

1 reference

Modeling stochastic gene expression: implications for haploinsufficiency

21 January 2018

1 reference

Ribosomopathies: human disorders of ribosome dysfunction

21 January 2018

1 reference

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach

21 January 2018

1 reference

High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21131976

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21131976

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The Treacher Collins syndrome. A clinical, radiological, and genetic linkage study on two pedigrees

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21131976